Aniridie, une famille a degre de penetrance faible. [Aniridia in a family characterized by low penetration]

Details

Serval ID
serval:BIB_63130B7EE723
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Aniridie, une famille a degre de penetrance faible. [Aniridia in a family characterized by low penetration]
Journal
Journal de Genetique Humaine
Author(s)
Balmer  A., Zografos  L.
ISSN
0181-5512
1015-8146
0021-7743 (Print)
Publication state
Published
Issued date
02/1981
Volume
28
Number
5
Pages
195-200
Notes
Case Reports
English Abstract
Journal Article --- Old month value: Feb
Abstract
Familial aniridia is an hereditary condition with dominant transmission. The frequency of associated lesions appears to indicate that absence of the iris is only the primary sign of an anomaly of development of the entire eye, derivatives of the ectoderm being predominantly affected. The authors examined the presence of familial anridia through 4 generations, characterized by low penetration and cataract predominantly of the right eye.
Keywords
Adult Aged Cataract/*genetics Child, Preschool Female Genes, Dominant Humans Iris/*abnormalities Male Middle Aged
Pubmed
Web of science
Create date
28/01/2008 14:09
Last modification date
20/08/2019 15:19
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